ClinVar Miner

List of variants in gene CLN5 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.340-136G>A rs605153 0.99234
NM_006493.1(CLN5):c.-115G= rs654196 0.46777
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.*292G>A rs700363 0.12838
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.339+309T>C rs9573972 0.10982
NM_006493.4(CLN5):c.*155C>T rs700365 0.09182
NM_006493.4(CLN5):c.*33A>G rs9573974 0.08077
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.565+90T>A rs7328841 0.03482
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.340-185C>G rs113859549 0.01575
NM_006493.4(CLN5):c.*158C>G rs111327761 0.01567
NM_006493.4(CLN5):c.566-321A>C rs113639365 0.01556
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.565+262C>A rs144108987 0.01236
NM_006493.4(CLN5):c.340-248T>C rs45587934 0.01198
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.174-284C>A rs7984162 0.00713
NM_006493.4(CLN5):c.*180C>T rs700364 0.00556
NM_006493.4(CLN5):c.566-147G>A rs141010472 0.00483
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036 0.00026
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935 0.00021
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608 0.00019
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054 0.00009
NM_006493.4(CLN5):c.417C>T (p.Phe139=) rs371229525 0.00009
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750 0.00009
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248 0.00008
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006493.2(CLN5):c.-11G>C rs554524153 0.00006
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) rs762333226 0.00006
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) rs368428437 0.00006
NM_006493.4(CLN5):c.-21G>A rs529998879 0.00005
NM_006493.4(CLN5):c.687C>T (p.Tyr229=) rs778480440 0.00005
NM_006493.2(CLN5):c.-8G>A rs772316134 0.00004
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) rs371624826 0.00004
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp) rs61504484 0.00003
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839 0.00003
NM_006493.2(CLN5):c.54A>G (p.Gln18=) rs767480061 0.00003
NM_006493.4(CLN5):c.-141C>T rs759859373 0.00003
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820 0.00003
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545 0.00003
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr) rs148544801 0.00003
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728 0.00003
NM_006493.2(CLN5):c.117G>C (p.Ser39=) rs779934262 0.00002
NM_006493.2(CLN5):c.57C>A (p.Gly19=) rs1057522685 0.00002
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036 0.00002
NM_006493.2(CLN5):c.24G>A (p.Gly8=) rs751533177 0.00001
NM_006493.2(CLN5):c.5G>C (p.Arg2Pro) rs796052342 0.00001
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) rs1064795659 0.00001
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386 0.00001
NM_006493.4(CLN5):c.21G>T (p.Thr7=) rs1057521258 0.00001
NM_006493.4(CLN5):c.339+11A>G rs755999018 0.00001
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg) rs147065248 0.00001
NM_006493.4(CLN5):c.565+15T>G rs751120160 0.00001
NM_006493.4(CLN5):c.565+20C>T rs780892019 0.00001
NM_006493.4(CLN5):c.637A>C (p.Asn213His) rs140122775 0.00001
NM_006493.4(CLN5):c.761C>T (p.Thr254Ile) rs398124228 0.00001
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) rs929479143 0.00001
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) rs376675270 0.00001
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
GRCh37/hg19 13q22.3(chr13:77574552-77575350)x1
NM_001366624.2(CLN5):c.*43G>A rs2034339711
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) rs61504484
NM_006493.2(CLN5):c.14T>C (p.Leu5Pro) rs2154034182
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu) rs1259746826
NM_006493.2(CLN5):c.50G>C (p.Gly17Ala) rs769990158
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.4(CLN5):c.*269G>A rs137867457
NM_006493.4(CLN5):c.-96C>G rs773979248
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.1062A>T (p.Thr354=) rs1555274409
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) rs796052345
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) rs765773686
NM_006493.4(CLN5):c.21G>A (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.21G>C (p.Thr7=) rs1057521258
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) rs201068201
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.416T>C (p.Phe139Ser) rs2034259131
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) rs1064795474
NM_006493.4(CLN5):c.559A>G (p.Ile187Val)
NM_006493.4(CLN5):c.565+20C>G rs780892019
NM_006493.4(CLN5):c.566-55del rs58476086
NM_006493.4(CLN5):c.566-55dup rs58476086
NM_006493.4(CLN5):c.566-56_566-55dup rs58476086
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006493.4(CLN5):c.566-8dup rs760343764
NM_006493.4(CLN5):c.566-97G>A rs67836242
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) rs1555274338
NM_006493.4(CLN5):c.683C>T (p.Ser228Phe) rs753041170
NM_006493.4(CLN5):c.731A>G (p.Glu244Gly) rs1057518562
NM_006493.4(CLN5):c.752A>G (p.Asn251Ser) rs777477178
NM_006493.4(CLN5):c.775A>G (p.Ile259Val) rs794727641
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) rs772050001
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) rs1555274374
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) rs2034348880
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967

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